近日由著名遺傳生物學(xué)家賀林院士領(lǐng)導(dǎo)，上海復(fù)旦大學(xué),、中科院上海生命科學(xué)研究院營養(yǎng)科學(xué)研究所和交通大學(xué)的研究人員組成的一個研究團(tuán)隊發(fā)現(xiàn)了中國漢族人群中與白細(xì)胞端粒長度（LTL）相關(guān)的兩個單核苷酸多態(tài)（SNPs）,。相關(guān)研究成果公布在國際權(quán)威期刊 European Journal of Human Genetics 雜志上。
端粒(Tefomere,。)是真核細(xì)胞染色體末端特殊的DNA結(jié)構(gòu),由高度重復(fù)的DNA序列(在人類為TTAGGG)和結(jié)合蛋白所構(gòu)成,。端粒的長度隨著每次細(xì)胞分裂逐漸變短，是細(xì)胞保護(hù)染色體免遭熔合、重組和降解的重要機(jī)制,。端粒DNA長度是細(xì)胞復(fù)制歷史的標(biāo)志,并與人體的衰老以及多種疾病的發(fā)生有著密切的關(guān)系,。近年在大量端粒相關(guān)研究中，外周血白細(xì)胞端粒長度（LTL）被研究人員視為首選的端粒長度測量系統(tǒng),。
近期的一項全基因組關(guān)聯(lián)研究證實染色體3q26區(qū)域一個包含TERC的位點與LTL相關(guān),。為了確定中國大陸人群基因組中靠近TERC的位點的兩個SNPs rs12696304和rs16847897的效應(yīng)。賀林課題組研究人員對4016名中國漢族個體進(jìn)行兩個候選SNPs與LTL的關(guān)聯(lián)分析,。經(jīng)校正年齡,、性別和糖尿病基礎(chǔ)上，利用多元線性回歸分析方法研究人員評估了每個SNP與LTL的相關(guān)性,。統(tǒng)計結(jié)果表明在中國漢族人群中靠近TERC的SNP rs12696304 和rs16847897與LTL的相關(guān)性分別為P~4.5 × 10?3 and 9.5 × 10?5,。rs12696304 和rs16847897等位基因的一個拷貝分別對應(yīng)端粒長度相對的 T/S 比率為0.024和 0.031，分別相當(dāng)于大約3年和4年的年齡相關(guān)端粒磨損程度,。
近年來賀林院士與同事一道在遺傳學(xué)研究中取得了一系列的突破性研究成果：揭示了倍受世人關(guān)注的遺傳界百年之迷——第一例孟德爾常染色體遺傳病,，率先完成了A-1型短指(趾)癥致病基因精確定位、克隆與突變檢測,，發(fā)現(xiàn)了IHH基因的3個點突變是致病的直接原因,，并與身高相關(guān)；發(fā)現(xiàn)了得到國際公認(rèn)的世界上第一例以中國人姓氏“賀一趙缺陷癥”命名的罕見的恒齒缺失的孟德爾常染色體顯性遺傳病并成功地定位了該致病基因,。這一新研究論文首次揭示了中國漢族人種中靠近TERC附近的SNPs對LTL的影響效應(yīng),。（生物谷Bioon.com）
生物谷推薦原文出處：
European Journal of Human Genetics doi:10.1038/ejhg.2011.4.
Common variants near TERC are associated with leukocyte telomere length in the Chinese Han population.
Shen Q, Zhang Z, Yu L, Cao L, Zhou D, Kan M, Li B, Zhang D, He L, Liu Y.
1] Institutes of Biomedical Sciences, Fudan University, Shanghai, PR China [2] Institute for Nutritional Sciences, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, Graduate School of the Chinese Academy of Sciences, Shanghai, PR China.
Abstract
A recent genome-wide association study has identified an association between leukocyte telomere length (LTL) and a locus at 3q26 that includes TERC. In order to evaluate the effects of the SNPs rs12696304 and rs16847897 near TERC in the population of mainland China, we conducted an association study of LTL focusing on these two candidate SNPs in a sample of 4016 Chinese Han individuals. Multiple linear regression analyses were performed to evaluate the association of LTL with each SNP adjusted for age, gender and diabetes status. In the study, we confirmed the association of SNP rs12696304 and rs16847897 near TERC with LTL in the Chinese Han population (P～4.5 × 10(-3) and 9.5 × 10(-5), respectively). Each copy of the major allele of rs12696304 and rs16847897 was associated with a shorter mean telomere length of 0.024 and 0.031 T/S respectively, which is equivalent to about 3 and 4 years of average age-related telomere attrition. Our short report confirmed the effects of SNPs near TERC on LTL in the Chinese Han population for the first time.
